Canonical Allele Identifier: CA355963280

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002377G>C , CM000666.2:g.1002377G>C	GRCh38
NC_000004.11:g.996165G>C , CM000666.1:g.996165G>C	GRCh37
NC_000004.10:g.986165G>C	NCBI36
NG_008103.1:g.20381G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1081G>C MANE Select	NP_000194.2:p.Ala361Pro
ENST00000514224.2:c.1081G>C MANE Select	ENSP00000425081.2:p.Ala361Pro
NM_000203.4:c.1081G>C	NP_000194.2:p.Ala361Pro
NM_001363576.1:c.685G>C	NP_001350505.1:p.Ala229Pro
NR_110313.1:n.1169G>C
ENST00000247933.8:c.1081G>C	ENSP00000247933.4:p.Ala361Pro
ENST00000247933.9:c.1081G>C	ENSP00000247933.4:p.Ala361Pro
ENST00000514224.1:c.685G>C	ENSP00000425081.1:p.Ala229Pro
ENST00000514698.5:n.1188G>C
ENST00000652070.1:n.1137G>C
XM_006713882.2:c.685G>C	XP_006713945.1:p.Ala229Pro
XM_011513459.1:c.1147G>C	XP_011511761.1:p.Ala383Pro
XM_011513460.1:c.940G>C	XP_011511762.1:p.Ala314Pro
XM_011513461.1:c.874G>C	XP_011511763.1:p.Ala292Pro
XM_011513461.2:c.874G>C	XP_011511763.1:p.Ala292Pro
XM_011513462.1:c.793G>C	XP_011511764.1:p.Ala265Pro
XM_011513463.1:c.793G>C	XP_011511765.1:p.Ala265Pro
XM_017008163.1:c.121G>C	XP_016863652.1:p.Ala41Pro
XR_924947.1:n.1150G>C